Results 151 to 160 of about 80,027 (353)

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA. [PDF]

, 2014
Macroautophagy (hereafter autophagy) is a key pathway in neurodegeneration. Despite protective actions, autophagy may contribute to neuron demise when dysregulated.
Batlevi, Yakup, Carromeu, Cassiano, Cortes, Constanza J, Frankowski, Harald, Garden, Gwenn A, Ivanov, Nishi, La Spada, Albert R, Le, Amy, Miranda, Helen C, Muotri, Alysson R, Sopher, Bryce L, Young, Jessica E   +11 more
core  

A case of bulbospinal muscular atrophy with large fasciculation manifesting as spinal myoclonus

Clinical Neurophysiology Practice, 2017
Objective: This paper reports a patient with bulbospinal muscular atrophy (BSMA) who presented with spinal myoclonus, documented by video and surface electromyography.
Manabu Inoue, Yasuhiro Kojima, Masutaro Kanda, Koji Tsuzaki, Yoko Shibata, Toshiaki Hamano, Hiroshi Shibasaki   +6 more
doaj  

Nusinersen Treatment for Spinal Muscular Atrophy: Retrospective Multicenter Study of Pediatric and Adult Patients in Kuwait

Neurology International
Spinal muscular atrophy is a neuromuscular genetic condition associated with progressive muscle weakness and atrophy. Nusinersen is an antisense oligonucleotide therapy approved for the treatment of 5q spinal muscular atrophy in pediatric and adult ...
Asma AlTawari, Mohammad Zakaria, Walaa Kamel, Nayera Shaalan, Gamal Ahmed Ismail Elghazawi, Mohamed Esmat Anwar Ali, Dalia Salota, Amr Attia, Ehab Elsayed Ali Elanay, Osama Shalaby, Fatema Alqallaf, Vesna Mitic, Laila Bastaki   +12 more
doaj   +1 more source

Segregation analysis of chronic childhood spinal muscular atrophy. [PDF]

, 1978
John Pearn
openalex   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Considerations for Treatment in Clinical Care of Spinal Muscular Atrophy Patients

Children
Spinal Muscular Atrophy is a neurodegenerative disease which can lead to muscle weakness, paralysis, and in some cases death. There are many factors that contribute to the severity of symptoms and those factors can be used to determine the best course of
Stephanie Voight, Kapil Arya
doaj   +1 more source

Learning Cortico-Muscular Dependence through Orthonormal Decomposition of Density Ratios [PDF]

arXiv
The cortico-spinal neural pathway is fundamental for motor control and movement execution, and in humans it is typically studied using concurrent electroencephalography (EEG) and electromyography (EMG) recordings. However, current approaches for capturing high-level and contextual connectivity between these recordings have important limitations.
arxiv  

MOTOR NERVE CONDUCTION VELOCITY IN SPINAL MUSCULAR ATROPHY-AN INDEX OF SEVERITY [PDF]

, 1974
A. Moosa
openalex   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Optimizing Dynamic Balance in a Rat Robot via the Lateral Flexion of a Soft Actuated Spine [PDF]

arXiv
Balancing oneself using the spine is a physiological alignment of the body posture in the most efficient manner by the muscular forces for mammals. For this reason, we can see many disabled quadruped animals can still stand or walk even with three limbs.
arxiv